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Record W2119421798 · doi:10.1038/mp.2013.197

Single nucleotide polymorphism in the neuroplastin locus associates with cortical thickness and intellectual ability in adolescents

2014· article· en· W2119421798 on OpenAlexaff
Sylvane Desrivières, Anbarasu Lourdusamy, Chenyang Tao, Roberto Toro, Tianye Jia, Eva Loth, Lourdes Martinez Medina, Agnieszka Kepa, Alinda R. Fernandes, Barbara Ruggeri, Filomena Marino Carvalho, Graham Cocks, Tobias Banaschewski, Gareth J. Barker, Arun L.W. Bokde, Christian Büchel, Patricia Conrod, Herta Flor, Andreas Heinz, Jürgen Gallinat, Hugh Garavan, Penny Gowland, Rüdiger Brühl, Claire Lawrence, K Mann, Marie‐Laure Paillère Martinot, Frauke Nees, Mark Lathrop, J-B Poline, Marcella Rietschel, Paul M. Thompson, Mira Fauth‐Bühler, Michael N. Smolka, Zdenka Pausová, T. Paus, Jianfeng Feng, Günter Schumann

Bibliographic record

VenueMolecular Psychiatry · 2014
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsHospital for Sick ChildrenMontreal Neurological Institute and HospitalSickKids FoundationUniversity of TorontoUniversité de MontréalCentre Hospitalier Universitaire Sainte-Justine
FundersSvenska Forskningsrådet FormasMedical Research CouncilVetenskapsrådetBundesministerium für Bildung und ForschungNational Institute for Health and Care Research
KeywordsSingle-nucleotide polymorphismHuman brainBiologyCerebral cortexPsychologyLateralization of brain functionNeuroscienceLocus (genetics)GeneticsGeneGenotype

Abstract

fetched live from OpenAlex

Despite the recognition that cortical thickness is heritable and correlates with intellectual ability in children and adolescents, the genes contributing to individual differences in these traits remain unknown. We conducted a large-scale association study in 1583 adolescents to identify genes affecting cortical thickness. Single-nucleotide polymorphisms (SNPs; n=54,837) within genes whose expression changed between stages of growth and differentiation of a human neural stem cell line were selected for association analyses with average cortical thickness. We identified a variant, rs7171755, associating with thinner cortex in the left hemisphere (P=1.12 × 10(-)(7)), particularly in the frontal and temporal lobes. Localized effects of this SNP on cortical thickness differently affected verbal and nonverbal intellectual abilities. The rs7171755 polymorphism acted in cis to affect expression in the human brain of the synaptic cell adhesion glycoprotein-encoding gene NPTN. We also found that cortical thickness and NPTN expression were on average higher in the right hemisphere, suggesting that asymmetric NPTN expression may render the left hemisphere more sensitive to the effects of NPTN mutations, accounting for the lateralized effect of rs7171755 found in our study. Altogether, our findings support a potential role for regional synaptic dysfunctions in forms of intellectual deficits.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.462
Threshold uncertainty score0.590

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.005
GPT teacher head0.197
Teacher spread0.192 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations72
Published2014
Admission routes1
Has abstractyes

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